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VWF c.3295_3296delinsCC ;(p.C1099P)
Variant ID: 12-6132880-CA-GG
NM_000552.3(
VWF
):c.3295_3296delinsCC;(p.C1099P)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10
Variant appearance in text: VWF: C1099P
PubMed Link:
22431572
Variant Present in the following documents:
Main text
View BVdb publication page